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Neurofibromatosis type 1 (NF1) is a genetic condition that can affect the brain, spinal cord, nerves and skin.
It is characterised by skin changes and the growth of tumours along the nerves in the body. These tumours are usually not cancerous.
It is estimated that
one in 3,000 people have NF1. This condition has been observed in all racial groups and affects both genders.
NF1 is generally diagnosed through a physical examination by a doctor with experience in managing NF1, who will assess if the clinical diagnostic criteria of NF1 is met.
Although NF1 is a hereditary condition that one is born with, some symptoms develop gradually over a number of years. The severity of symptoms varies from person to person. Almost all individuals with NF1 are diagnosed by adulthood.
People may be diagnosed with NF1 by their doctors when they meet
two or more of the following features:
1) 6 or more café-au-lait spots
2) Freckling around the armpits or groin
3) 2 or more neurofibromas or 1 plexiform neurofibroma
4) Optic pathway glioma
5) 2 or more Lisch nodules
6) Specific skeletal changes
7) Family history
8) A fault (i.e., mutation) in the
Some children under 8 years of age may have café-au-lait spots, but no other signs of NF1. These children should be monitored carefully to see if other signs of the condition develop
The following problems are more common in individuals with NF1 and need to be watched for and treated if necessary:
The features of NF1 can be very different even among members of the same family.
Most people with NF1 do not have many of the health problems listed above, and live long, healthy lives.
Note: The conditions associated with NF1 and their risk estimates may change as more information is available.
NF1 is caused by a fault (i.e., mutation) in the
NF1 gene. Genes are instructions for cells to make proteins in the body. The NF1 gene is a tumour suppressor gene which normally produces a protein that blocks the development of tumours and cancer. When faulty, it leads to a diagnosis of NF1 and an increased risk of tumours/cancer.
You can undergo genetic testing to understand if you have a faulty
NF1 gene. As genes are shared among family, if you have a faulty
NF1 gene, it may indicate that other family members may have inherited the faulty gene too and may also be at increased risk of tumours/cancer.
NF1 follows a
dominant inheritance pattern. This means that having one faulty copy can cause features of NF1.
About half of all people with NF1 have inherited the faulty gene from a parent. The other half have it because of a new and spontaneous change (mutation) in their gene.
Everyone has 2 copies of each gene in their body’s cells:
If you or your family members meet the following criteria, genetic testing should be considered to confirm the diagnosis of NF1.
Genetic testing is typically a one-time blood test. If a blood sample cannot be taken, other sample sources (e.g., skin or saliva) may be explored.
There are 3 types of results you may receive:
Personalised managementThe genetic test result may help to personalise management options based on one’s tumour/cancer risk.
If you have a cancer diagnosis
If you are currently cancer-free
A genetic test result can also help one to understand if other family members are at risk of NF1. Family members can then consider their own testing (predictive testing) to clarify carrier status and determine their tumour/cancer risks.
While it is not possible to cure NF1, much can be done to make sure that you or your child has the best possible outcome.
The multidisciplinary medical team looking after you or your child will be able to address specific medical concerns and routine NF1-related healthcare issues.
Sun protection, such as the use of sunscreen, is also recommended.
Your managing doctor(s) will discuss screening recommendations with you and your child (if needed) in greater detail. The age and onset of screening may depend on the personal and/or family history of NF1. Screening guidelines may change as more information is known.
Neurological or psychiatric conditions and pain
These issues may not be encountered by most individuals with NF1. Screening, management or treatment of these problems are offered on a case-by-case basis and will be discussed in greater detail by your managing doctors.